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Updated: Nov 17, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Single- and Multimarker Genome-Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism
Marisol Herrera-Rivero1, Monika Stoll1,2, Jana-Charlotte Hegenbarth1
1Department of Genetic Epidemiology, Institute of Human Genetics, University of Münster, Münster, Germany.
This study identified 20 new genes associated with venous thromboembolism (VTE) risk using genome-wide analysis. These findings advance our understanding of VTE genetic factors and potential cardiovascular links.
Area of Science:
- Genetics
- Cardiovascular Diseases
- Thrombosis
Background:
- Genome-wide association studies (GWASs) have identified some VTE susceptibility genes.
- A significant portion of VTE's genetic variance remains unexplained.
Purpose of the Study:
- To identify novel genetic loci associated with venous thromboembolism (VTE).
- To explore the genetic architecture underlying VTE risk in a European ancestry cohort.
Main Methods:
- Genome-wide single- and multi-marker analysis.
- Gene-level association testing.
- Analysis of 964 VTE cases and 899 healthy controls.
Main Results:
- Identified 19 loci associated with VTE at the genome-wide significance level (p ≤ 5×10⁻⁸).
- Confirmed associations for known VTE genes (F5, NME7, ABO, FGA).
- Discovered 20 potentially novel VTE susceptibility genes, many linked to cardiovascular diseases.
Conclusions:
- This study significantly expands the known genetic landscape of VTE.
- Newly identified genes may influence platelet and blood cell function, impacting VTE risk.
- Further research is needed to validate findings and explore shared genetic links with other cardiovascular diseases.
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